Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has three major clinical subtypes (severe Hurler syndrome, intermediate Hurler-Scheie syndrome and attenuated Scheie syndrome). We aim to identify the genetic variants in MPS I patients and...
Alternative Titles
Full title
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
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TN_cdi_doaj_primary_oai_doaj_org_article_19f742a2ac334e2fb43125117847891f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_19f742a2ac334e2fb43125117847891f
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ISSN
1746-1596
E-ISSN
1746-1596
DOI
10.1186/s13000-018-0710-3
